rs12042924

This variant is located in the CRB1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.17

p 1.0e-11

N 1,028,980

Large GWAS

multi-ancestry

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele C

OR 0.01

p 2.0e-8

N 1,212,859

Large GWAS

European

Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)

Allele C

OR 0.16

p 6.0e-11

N 757,601

Large GWAS

European

pulse pressure measurement

Allele C

OR 0.11

p 7.0e-11

N 1,028,980

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About CRB1

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]

rs12042924

GWAS Catalog Trait Associations (2)

systolic blood pressure

pulse pressure measurement

ClinVar annotation

About CRB1

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